Genetics:

Assume that an autosomal recessive disorder occurs in 1 of10,000 individuals (0.0001) in the general population and that inthis population about 2% (0.02) of the individuals are carriers forthe disorder. Estimate the probability of this disorder occurringin the offspring of a marriage between first cousins, and comparethis probability to the population at large.

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Keith LeannonLv2

29 Sep 2019

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Huntington Chorea is a serious genetic disorder caused by a rare dominant allele (H) at an autosomal locus on chromosome 4. Individuals bearing an H allele produce a damaging protein that accumulates within the brain, leading to progressive loss of motor control and often to dementia. The disease often manifests itself later in life, and usually, Huntington Chorea victims die within 15 years after their neurological symptoms are diagnosed, but some people die before even being diagnosed. In some rural Michigan populations, the frequency of people diagnosed with the disorder is unusually high, about 0.05%. Genetic work shows that the wild-type allele (+) mutates into H at a rate of 9.56x10-7 mutations per gamete.

Use these data to estimate how many children out of 10,000,000 births to parents without the disorder will have Huntingtonâs Chorea and if these Michigan populations are at mutation-selection equilibrium, estimate the relative fitness of individuals possessing this genetic disorder (express your answer with at least 4 digits after the decimal point). Assume that homozygotes for the H allele are non-existent because the H allele is super rare, and all individuals with Huntington Chorea are heterozygotes, H+.

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Type 1 Gaucher disease is a rare disorder resulting from not having enough glucocerebrosidase, an important enzyme that breaks down a fatty chemical called glucocerebroside. It is caused by an autosomal recessive allele and the disease is most common in population groups in which consanguineous marriage is not unusual. A woman is married to her first cousin, and the couple is planning to have a child, but discovers that their shared grandmotherâs brother suffered from type 1 Gaucher disease (assume others in the family donât have Type 1 Gaucher disease).

1. Draw the relevant parts of the pedigree (starting from the coupleâs shared great grandparents).

2. What is the probability that the coupleâs first child will have Type 1 Gaucher disease, assuming that all people who marry into the family are homozygous for the normal allele?

3. If the coupleâs first child turns out to have type 1 Gaucher disease but the second child does not have it, what is the probability that their second child is a carrier?

Questions 4-6. Sickle cell disease:
Sickle cell disease (sickle cell anemia) is a relatively common disorder in individuals of

African descent and affects approximately 1 in 500 African-Americans. Due to a mutation in an autosomal gene for hemoglobin, the homozygous recessive genotype leads to red blood cells that are relatively stiff and sticky, and deform into a sickle shape as they lose oxygen. This leads to problems in the spleen, and anemia.

There are hundreds of different hemoglobin alleles. Individuals heterozygous for the sickle cell allele and one non-sickle cell allele usually do not experience major complications or even noticeable symptoms. A genetic test is available to diagnose carriers.

James does not have sickle cell disease, neither does his mother or father, but his sister does. His wife Natasha does not have sickle cell disease, and neither of her parents does either. Natasha also has a sister who has sickle cell anemia and two brothers without the disease.

5.) If James and Natasha have a child, what is the probability that the child would be a homozygote for the recessive allele and have sickle cell disease? You may draw the Punnet square but please solve the problem using probability calculations, then explain your reasoning in 2-5 complete sentences.

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